brain small vessel disease 3

Term ID

DOID:0112315

Synonyms

• BSVD3

Definition

A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. https://pubmed.ncbi.nlm.nih.gov/30412317/

References

• OMIM:618360

Ontology

Human Disease   ( DOID:0112315 )